Leptin Protein (LEP) Human Active Protein

This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathways that inhibit feeding and promote energy expenditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing. Mutations in this gene and its regulatory regions cause severe obesity and morbid obesity with hypogonadism in human patients. A mutation in this gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Aug 2017]

leptin: May function as part of a signaling pathway that acts to regulate the size of the body fat depot. An increase in the level of LEP may act directly or indirectly on the CNS to inhibit food intake and/or regulate energy expenditure as part of a homeostatic mechanism to maintain constancy of the adipose mass. Defects in LEP may be a cause of obesity (OBESITY). It is a condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. Belongs to the leptin family.

Protein type: Cell development/differentiation; Hormone; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 7q32.1

Cellular Component: extracellular region; extracellular space

Molecular Function: hormone activity; peptide hormone receptor binding

Biological Process: adult feeding behavior; angiogenesis; energy reserve metabolic process; intestinal absorption; leptin-mediated signaling pathway; lipid metabolic process; negative regulation of appetite; negative regulation of autophagy; negative regulation of glucose import; placenta development; positive regulation of developmental growth; positive regulation of JAK-STAT cascade; positive regulation of MAPKKK cascade; positive regulation of phosphoinositide 3-kinase cascade; positive regulation of protein kinase B signaling cascade; positive regulation of T cell proliferation; positive regulation of TOR signaling pathway; prostaglandin secretion; regulation of angiogenesis; regulation of bone remodeling; regulation of cell cycle; regulation of endothelial cell proliferation; regulation of natural killer cell activation; regulation of natural killer cell mediated cytotoxicity; regulation of natural killer cell proliferation; regulation of nitric-oxide synthase activity; response to insulin stimulus; sexual reproduction; T cell differentiation; tyrosine phosphorylation of STAT protein

Disease: Leptin Deficiency